Variant report

Variant	rs17030971
Chromosome Location	chr1:113617151-113617152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:113617080-113617230	HRPEpiC	eye:	n/a	chr1:113617116-113617124
2	CTCF	chr1:113617060-113617210	HBMEC	blood vessel:	n/a	chr1:113617116-113617124
3	PAX5	chr1:113616816-113617214	GM12891	blood:	n/a	n/a
4	CTCF	chr1:113617060-113617210	GM12864	blood:	n/a	chr1:113617116-113617124
5	RUNX3	chr1:113616713-113617274	GM12878	blood:	n/a	n/a
6	NFATC1	chr1:113616764-113617237	GM12878	blood:	n/a	n/a
7	CTCF	chr1:113617020-113617170	HCFaa	heart:	n/a	chr1:113617116-113617124
8	CTCF	chr1:113617080-113617230	HCPEpiC	choroid plexus:	n/a	chr1:113617116-113617124
9	CTCF	chr1:113617060-113617210	AoAF	blood vessel:	n/a	chr1:113617116-113617124
10	JUN	chr1:113614096-113617273	K562	blood:	n/a	chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097
11	POLR2A	chr1:113615213-113617173	GM12891	blood:	n/a	n/a
12	CTCF	chr1:113617060-113617210	HRPEpiC	eye:	n/a	chr1:113617116-113617124
13	CTCF	chr1:113617020-113617170	HCPEpiC	choroid plexus:	n/a	chr1:113617116-113617124
14	POU2F2	chr1:113616823-113617167	GM12891	blood:	n/a	n/a
15	RUNX3	chr1:113616837-113617309	GM12878	blood:	n/a	n/a
16	CTCF	chr1:113617040-113617190	HPAF	blood vessel:	n/a	chr1:113617116-113617124
17	CTCF	chr1:113617100-113617250	GM12868	blood:	n/a	chr1:113617116-113617124
18	FOS	chr1:113616924-113617243	MCF10A-Er-Src	breast:	n/a	chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097 chr1:113617087-113617097

No.	Distal block	Cell Line	Cell type
1	chr1:113442578..113444928-chr1:113615994..113617542,2	K562	blood:
2	chr1:113616013..113618025-chr1:113688637..113691001,2	MCF-7	breast:
3	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
4	chr1:113615667..113617631-chr6:26055280..26057308,2	MCF-7	breast:
5	chr1:113615839..113617741-chr1:113618615..113621229,2	K562	blood:
6	chr1:113257532..113261488-chr1:113614794..113617265,4	K562	blood:
7	chr1:113615878..113618493-chr1:113649795..113652119,3	MCF-7	breast:
8	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
9	chr1:113258208..113260404-chr1:113615515..113617358,3	MCF-7	breast:
10	chr1:113615969..113617756-chr1:113641102..113642672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238198	TF binding region
ENSG00000155367	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17030973	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17031018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3925280	1.00[AMR][1000 genomes]
rs7531288	1.00[AMR][1000 genomes]
rs7531940	1.00[AMR][1000 genomes]
rs7553057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113614800-113617200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:113615000-113617200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:113615000-113617200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:113615000-113617200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:113615000-113617200	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:113615000-113617200	Active TSS	HSMMtube	muscle
7	chr1:113615000-113617200	Active TSS	NHDF-Ad	bronchial
8	chr1:113615000-113617400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:113615000-113617400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:113615000-113617400	Active TSS	Colonic Mucosa	Colon
11	chr1:113615000-113617400	Active TSS	NHLF	lung
12	chr1:113615000-113617800	Active TSS	Right Ventricle	heart
13	chr1:113615200-113617200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:113615200-113617200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:113615200-113617200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:113615200-113617200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:113615200-113617200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:113615200-113617200	Active TSS	Left Ventricle	heart
19	chr1:113615200-113617400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:113615200-113617400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:113615200-113617400	Active TSS	HSMM	muscle
22	chr1:113615200-113617600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:113615200-113617800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:113615200-113618000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:113615200-113618200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:113615400-113617200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:113615400-113617200	Active TSS	Fetal Intestine Large	intestine
28	chr1:113615400-113617200	Active TSS	Fetal Intestine Small	intestine
29	chr1:113615400-113617200	Active TSS	A549	lung
30	chr1:113615400-113618000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:113616000-113617200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:113616200-113617200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:113616200-113617200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:113616200-113617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:113616200-113617200	Flanking Active TSS	Fetal Brain Male	brain
36	chr1:113616400-113617200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:113616400-113617200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr1:113616400-113617200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:113616400-113617200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:113616400-113617200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:113616400-113617200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:113616400-113617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:113616400-113617200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr1:113616400-113617200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:113616400-113617200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr1:113616400-113617200	Active TSS	Right Atrium	heart
47	chr1:113616400-113617200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:113616400-113617200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:113616400-113617200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:113616400-113617200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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